A landmark study published in Cell has shown that prime editing, a cutting-edge form of gene editing, can correct mutations causing Alternating Hemiplegia of Childhood (AHC) with a single in-brain injection. The research team fixed the most prevalent ATP1A3 gene mutations in mouse models, reducing symptoms and more than doubling survival, a first-of-its-kind success in treating a neurological disease directly in the brain. CRISPR-based gene editing was delivered through an harmless adeno-associated virus called AAV9. In parallel, patient-derived cells (iPSCs) responded similarly, reinforcing the method’s promise for human translation. Importantly, this success opens the door to targeting other genetic brain disorders previously deemed untreatable. Although results are preliminary, this study provides robust proof‑of‑concept for personalized gene editing in the brain and opens doors toward potential treatments for other intractable genetic neurological disorders.
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In a paper recently published in Nature Biomedical Engineering, Korean researchers report that large DNA deletions (>100 bp) occur during DNA repair at a much lower frequency for core and major editors than for Cas9 nucleases. The team performed in vitro gene editing on a panel of target sites in various cancer cell lines as well as in human embryonic stem cells and primary human T lymphocytes from two donors. DNA deletions were detected using a combination of CRISPR interference screening and an optimised long-range amplicon sequencing workflow that required the development of a k-mer alignment algorithm to simultaneously analyse large DNA deletions and small indels with high accuracy. The team found that Cas9-mediated double-strand breaks induced large deletions at variable frequencies ranging from 0.2% to 17.5% in all six cell lines, excluding primary T lymphocytes, in which the frequency of large deletions was much higher (around 15% on average for both donors).